Showing posts with label Alagille Syndrome. Show all posts
Showing posts with label Alagille Syndrome. Show all posts

Friday, December 3, 2010

Results: Eye Exam

Auggie had an eye exam yesterday to check for posterior embryotoxon - he does not have it.  This is great news - it just about rules out Alagille Syndrome.  That's a relief. 

Friday, September 10, 2010

New Tests: Eye Exam

The geneticist would like Auggie to have an eye exam to rule out posterior embryotoxon which is an eye condition associated with Alagille Syndrome.  The doctor thinks it's unlikely that he has this condition since it usually also is associated with liver problems and Auggie's liver is fine, but they want to rule it out.  Apparently the chromosome abnormality with this disease is at the G-level and will not show up on the chromosomal tabulation (we expect those results in 3 weeks).